B3GALNT2

Chr 1AR

beta-1,3-N-acetylgalactosaminyltransferase 2

Also known as: B3GalNAc-T2, MDDGA11

NCBI Gene: 148789 ENSG00000162885 UniProt: Q8NCR0 OMIM: 610194

The protein is a beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure on N- and O-glycans and is specifically involved in alpha-dystroglycan glycosylation, which is required for binding laminin and other extracellular proteins. Biallelic mutations cause congenital muscular dystrophy-dystroglycanopathy type A11, characterized by congenital onset muscular dystrophy with brain and eye anomalies. This condition follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11MIM #615181

Clinical highlights

Gene-disease validity (ClinGen)

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.84

LOEUF

LOF

Mechanism· G2P